Canonical Allele Identifier: CA1315397016

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688197473

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991843_188991845del , CM000664.2:g.188991843_188991845del	GRCh38
NC_000002.11:g.189856569_189856571del , CM000664.1:g.189856569_189856571del	GRCh37
NC_000002.10:g.189564814_189564816del	NCBI36
NG_007404.1:g.22471_22473del , LRG_3:g.22471_22473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.951+121_951+123del	ENSP00000415346.2:n.951+121_951+123del
ENST00000304636.9:c.951+121_951+123del MANE Select	ENSP00000304408.4:n.951+121_951+123del
ENST00000304636.7:c.951+121_951+123del	ENSP00000304408.3:n.951+121_951+123del
ENST00000317840.9:c.951+121_951+123del	ENSP00000315243.6:n.951+121_951+123del
ENST00000450867.1:c.49+121_49+123del
NM_000090.3:c.951+121_951+123del , LRG_3t1:c.951+121_951+123del	NP_000081.1:n.951+121_951+123del
NM_000090.4:c.951+121_951+123del MANE Select	NP_000081.2:n.951+121_951+123del